What is Charco Marie Tooth?

This disease is considered one of the inherited diseases that damages the peripheral nerves. In this disease, the work of the nerves that carry information and signals from the brain and spinal cord to other organs of the body and the senses, and the nerves that control the muscles are disrupted.

The prevalence of this disease begins at different ages based on the type of disease and its related genes, and may start from the beginning of birth or in adolescence and middle age gradually and spread slowly. It can be said that almost 1 in 33,000 people are affected by this disease, and the severity of its occurrence varies from person to person.

Signs and symptoms of Charcot-Marie-Tooth disease

The signs and symptoms of this disease vary from person to person. In some symptoms it is very severe and in others it is brief and few symptoms. For some people, it ends up with only a slight change in the shape of the soles of the feet, but for others, it leads to many joints and bones. Here are the most common signs and symptoms of Charcot-Marie-Tooth:

Weakness in different parts of the feet and hands such as wrists, palms, feet, knees, elbows, legs, and forearms
Thinning legs due to loss of muscle mass (atrophy)
Arching of the soles of the feet or palms of the hands
Deformation of the fingers and their hammering
Inability to lift your legs
Unusual gait, such as removing more than usual feet from the ground
Inability to walk and run, and frequent falls
Decreased sensation or numbness of the legs, hands, and arms to heat, cold, and touch
Curvature of the spine and hip displacement

Introducing the types of Charcot-Marie-Tooth disease

There are different types of CTM disease that may have common symptoms. But each has differences in genetic pattern, age of onset, and whether or not the axon or myelin sheath is involved.

CMT1 or Type 1

This type is caused by an abnormality in the myelin sheath (Myelin Sheath). The symptoms of this disease often begin between the ages of 5 and 25, and only 5% of them are serious and dependent on the use of wheelchairs. Symptoms of this type are associated with muscle weakness and atrophy, decreased nerve conduction speed, and loss of sensation.

CMT2 or Type 2

This type is less common than type 1. The cause of Charco-Marietooth type 2 is an abnormality in the axon of the peripheral nerve cell. All symptoms are similar to type 1, except that the rate of slowdown of nerve conduction is lower.

CMT3 or Jarrin-Sotas:

This type of Charco-Marie-Tooth is very severe and usually begins at the very beginning of infancy. Symptoms include delays in the development of motor skills, weakness and severe muscle atrophy, and sensory problems.

CMT4 or Type 4

This type has different genetic mutations, and each of them has distinct physiological and clinical characteristics. Each of them may also involve different ethnicities and races. Children with this type usually have weak legs from the beginning and may not be able to walk during adolescence.

CMT X or Type 5

This type is the second most common example of Charcot-Marie-Tooth’s disease. It is also caused by a mutation in gene 32 on the X chromosome.

Cause of Charcot-Marie-Tooth’s disease

These genes are responsible for the development of peripheral nerves and play a role in creating and maintaining myelin (the protective lining around the nerve). This defective and mutated gene may be passed on to the person from the mother or father, or both. Mutations in some genes can cause symptoms in two ways: damage to the nerves and damage to the protective lining of the nerve or myelin sheath.

Diagnosis of Charcot-Marie-Tooth Disease

Referring to a doctor and clinical examination of the suspect and examining the hereditary history of the disease among the parents

XNerve conduction tests to test the strength and speed of electrical signals passing through nerves
Electromyography (EMG) to measure the bioelectrical activity of muscles
Genetic testing
A nerve biopsy involves removing and analyzing a small piece of peripheral nerve under a microscope

How is Charcot-Marie-Tooth disease treated?

The question that arises for many sufferers and those around them is whether Sharco-Maritooth disorder has an inherited treatment? It should be said that there is no definitive cure for this disease, but different methods can be used to reduce the symptoms and complications of this disease and slow down its progression.

Pharmacological treatment of Charco-Marie-Tooth

There is no cure for Charcot-Maritooth’s disease. The only medications that the specialist doctor prescribes for the patient are painkillers that reduce the amount of pain. Recently, a new drug for Charco-Marietooth has not been discovered so that it can be used to completely reduce the incidence of symptoms and complications of this disease to zero.

Researchers are currently investigating PXT3003 drug, which is a combination of baclofen, sorbitol and naltroxene.

Use of Occupational Therapy and Physical Therapy in Charco-Marie Tooth

Physical therapy includes a group of muscle strength exercises, muscle and ligament stretching exercises, and moderate aerobic exercises. Physical therapy can help strengthen and stretch the muscles of the patient and prevent the muscles from tightening and losing their strength and volume. All movements should be under the supervision of a physiotherapist.

Hydrotherapy in the treatment of Charco-Marie-Tooth

Hydrotherapy maintains and strengthens muscle strength and reduces inflammation and stress in the joints. This treatment should also be done under the supervision of a physiotherapist.

Treatment of Charco-Marie-Tooth Disease with Stem Cells

Using stem cells and replacing them with cells containing incomplete proteins can be effective in treating a class of neuromuscular diseases, including Charcot-Maritooth’s disease.